Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

You are here: Molecular Genetics » Fabry's Disease

Fabry's Disease [E78.6]

OMIM numbers: 301500, 300644 (GLA)

Dipl.-Biol. Birgit Busse

Scientific Background

Fabry's disease belongs to the lysosomal storage diseases and is a X chromosomal inherited disorder of the glycosphingolipid catabolism. It arises from a reduction or lack in activity of the lysosomal enzyme alpha-galactosidase A (GLA), which is caused by mutations in the GLA gene. The defect in the enzyme results in progressive systemic accumulation of glycosphingolipids in various tissues and organs. Early diagnosis and initiation of treatment is of great significance to avoid severe complications. Signs and symptoms of Fabry's disease include angiokeratoma, sudden and severe pain, malfunctioning of various organs, which may result in stroke, heart attack and need for dialysis as the disease progresses. Time of the onset and course of the disease vary strongly; frequently the complaints start during childhood. Incidence of the classic Fabry's disease in men is estimated to be approx. 1 in 40,000. In contrast to other X chromosomal inherited diseases, heterozygous women are rarely asymptomatic and may develop signs and symptoms up to the full clinical picture of the disease, which requires treatment. Since 2001, enzyme replacement therapy is available in Europe.